cystic hygroma

I am creating this group so that parents in my situation can support each other. I am currently 14 weeks pregnant with a baby boy. At our first ultrasound my baby was diagnosed with a cystic hygroma. I had the CVS testing done and the results came back normal. We now have another ultrasound scheduled at 16 weeks, two days before christmas, to have another look at the baby. They have now mentioned it could be a heart or skeletal defect. Im not quite sure they have any idea what could be wrong now. I am completely devastated at what the outcome might be. This is my third pregnancy, i have two beautiful, healthy children so i never thought something like this would happen. Nobody i have talked to is familiar with this, i am looking for others in my situation for some support. I dont think anyone can understand what this feels like unless they have had to deal with it themselves.

Comments (999)

Hello ladies-I wrote on this board earlier but wanted to chime in as well-our baby was diagnosed with a 4.5 mm hygroma (nonseptated) in October. We were given a 50% chance of chromosomal defect and a high chance of miscarraige. Once the CVS came back normal we were given 50% chance of a heart condition. We also have several large universities in our area so we were originally at the first one but also sought a second opinion at the competing university as well. I have to say my regular OB was much more doom and gloom about the situation than the perinatologist(s) were. She had only seen two hygromas in ten years of practice. The perinatolgists told me that since this is what they do they see it "a lot". I never questioned how many. They never did test me for the viruses at either perinatologist and I still havent' figured out why. I even mentioned I had never had fifth's disease (I ended up getting it at 18 weeks so thats yet another complication) and they still didn't want to run any tests. I decided not to ask since its too late now.

My husband and I were both devastated by the news of the hygroma and the diagnosis. We even went to a counselor to help us deal with the situation. All I did was cry all day and I didn't leave the house at all. We skipped Thanksgiving with our families and just stayed home by ourselves and didn't celebrate. It is rough rough rough to go through. I was trying to decide - if a, then we will terminate, if b then we wont and torturing myself all hours of the night and day. The counselor told me to wait until I had the information and not play the "what if" games with myself. It was hard but it definitely helped. He also told us to engage in activities that took your physical and mental focus-like tennis. I was still very nauseated so I couldnt' engage in anything at all really much less a physical activity but it did help my husband to work through the initial phase of this. Like many of you I researched and researched. I was too sick to do much else and I felt that it helped in that it gave me something to do...

Our 16 week u/s showed the hygroma had resolved but showed an array of other issues, none of which were life threatening but combined really made the Dr.'s think there was something larger at play. We opted to do the chromosomal microarray test which tested for five hundred genetic syndromes including DiGeorge and Noonans among others. While it certainly didn't come close to ruling everything out it did provide us with peace of mind. I think this test is very expensive and may not be covered by insurance (we haven't yet found out) and is apparently quite controversial. I'd be happy to talk to anyone about it who may end up in a situation where they are considering the test. I think we were offered the test more because of the ultrasound findings combined with the hygroma rather than the hygroma by itself.

I agreed with a previous poster-think of all the babies that could have had these that resolved by the 16-20 week ultrasound and turned out fine and no one was any the wiser that it had existed.

I am still terrified regarding this pregnancy and its outcome but right now I can't do anything so I'm trying to remain positive-I'm sorry that we are all in the situation but I'm glad we have found support. Its a very isololating experience and everyone needs and deserves to be able to talk through their feelings and decision making process without any judgment. Best of luck to everyone -

Perhaps your bloodwork was previously done at regular appt's for the other tests. My doctor mentioned Torch Titus and some other tests he was going to do with my bloodwork. To check for an virus, infection or disease.

Yes - my husband is definitely not taking it the same as me. We briefly discussed it today. I just keep thinking why me? I have to get over that, I know - but that's all I can think about. Why everyone around me seems to be having uneventful pregnancies with no complications. Then us - difficult to conceive and then difficult to make it through the pregnancy. I have to stop feeling sorry for myself - that's why I keep saying "I just want to get this over with". I'll feel better on Monday when I can get more of my questions answered. And then make a decision on what is best moving forward. Waiting, as you know, is so difficult - especially knowing that my little one as of yesterday had a healthy heart beat and all measurements were good.

I'm sorry to hear that your wedding has been post-poned - however, i'm sure you want that day to be happy, wonderful and worry-free.

I have started to make a list of questions for my doctor - I feel like yesterday was such a blur and I cannot even remember what he said. Other than the baby will likely not survive. That I remember loud and clear.

Macey830, I completely understand. My husband is very analytical as well. When we talked about termination, it was very matter of fact for him. I understand what you mean about them saying "let's start over". But I said, what if this happens again? I asked him if he would be so quick to terminate that time as well? And let's note, that termination is not a quick fix and something easy for the woman to go through. It's a painful situation emotionally and physically. We are the ones that have to go through it! It got us to thinking and he really let me make the final decision and supported me either way. For me, I decided to give my baby every chance and let God make the decision. Again, I would not judge anyone who decided differently.

Emotions wise, my husband was upset for the first couple of days then he just put his emotions aside and said he would only deal with the facts. So, he takes each test as it comes and at this point he feels like everything is fine. That is kind of frustrating too... I mean, I am staying positive and want him to also but he has basically told his family that everything is fine now and we still have such a long way to go before that is confirmed.

I agree with Tammy, it's easier for a Mom to bond with an unborn baby since it is inside of us. I really don't think Dad's "get it" until they are holding the baby in their arms. You both have to do what is right for you. Don't let anyone, even your husbands discourage you. I wouldn't wish this decision on anyone, you just have to find your own way.

Tammy, the Torch Titers is a blood test they do to rule out that you don't have an virus that could effect the baby. Definitely ask your Dr. about it, shouldn't be a big deal for you to have it done.

Hang in there, girls! We'll get through this!!!

--

Mommy to Caitlyn(Jan 7, 08)& Brendan(May 28, 09-Cystic Hygroma dx at 12 wks/gone by 20 wks. CHD:critical PS/TR at birth but he is doing great now)

Thank you all for your support - I look forward to sharing my update with you following my Monday appt. Hopefully at that time I will have a better indication on what we are up against and the decisions that we face. I just need to get through tomorrow - my appt cannot come soon enough.

I'm not certain I will be strong enough to let nature take its course if the doctors continue to give me no hope - The pain of going through this day in and day out - wondering. I think if the tests come back (both blood and CVS) then I would hope that our doctors would give us some sort of glimmer.

I emailed my family giving them an update - My husband said that my mother just called and talked to him for an hour - Said my father was in tears all of last night and they both want to see me. But me being around people who are more emotional than I am right now, is not the best thing. My mom struggled with pregnancy - I was adopted then five years later she was able to conceive and had my brother - it is probably bringing up memories for them. I just really want to get through Monday before seeing anyone. I hope they understand.

I wish nothing but the best to everyone and their situations - I'm so happy that I found this board among all of the websites and information out there.

Just wanted to pop in and say hello. Counting down the last 24 hours until I get to find out my long awaited amnio results! It's been 3 weeks. I'm hopeful since everyone on this board so far has gotten normal results. That seems like a far better than 50% probability to me! But also trying to prepare myself to hear different news as well. Part of me is also expecting to hear a prognosis of Turners or Downs. Just really hoping I don't hear Trisomy 13 or 18. I've been reading stories on the website benotafraid.net of families who have dealt with these dissorders. So sad. Keeping my fingers crossed that it's good news.

As for feeling movement at 18 weeks, I felt things really early with my daughter as well. I'm a really small person (barely 5 feet and 100 pounds) so I think that's why I feel things sooner than most.

Hang in there ladies. I know the men in our lives seem like they don't care as much as we do sometimes, but I really just think they have a different way of dealing with things.

I just received an e-mail from my genetic counselor that I want to post as I had e-mailed her with several questions on next steps etc... It may or may not be helpful to you/or may be something you already know. Wishing you all the best with your test results and appts. Please keep us all posted. See below....

I apologize I did not get back to you sooner and hope I will answer all of your questions and I apologize if this may sound "technical and harsh", but email makes sympathy difficult. Please understand that I know this is the most difficult thing you have likely ever experienced. Yes, the cystic hygroma is septated, measures 4.8mm, and there was no identifiable fluid in any other areas of the body. The significance of an increased nuchal thickness of this size vs a cystic hygroma are generally interchangeable. Both indicate a substantially increased risk (but not a guarantee) for the baby to have a chromosome problem, heart defect, or other genetic condition. Keep in mind that the chance for a chromosome problem is 50% meaning there is an equally 50% chance the baby will NOT have a chromosome problem. The 20% you are quoting is likely similar to the chance we have right now with no other information other than the cystic hygroma is present. As we answer questions this percentage will shift.

The amnio will answer the initial question of a chromosome problem or not. The next step is what to do with the results. If it is a chromosome problem we will discuss the implications in detail at the time.

If the baby does not have a chromosome problem there are several possibilities. First we will monitor the size of the cystic hygroma and have a level II ultrasound/detailed anatomy scan at approximately 18 weeks gestation. If something is found that is worrisome such as fluid in other areas of the body or other birth defects, you will know at the time of your visit and again, we can these findings in detail. We will then see you again between 22-24 weeks gestation with a pediatric cardiologist to evaluate the baby's heart because as you said, heart defects are one of the next common possibility. If we get through all of these scans and the size of the cystic hygroma improves, no other obvious birth defects are identified, then there is up to an 85% chance that this child will do well. Can we rule out other genetic conditions that are not identifiable prenatally? No, I apologize, I will never be able to rule out everything that is possible. We have the potential to test for something like Noonan syndrome and several other conditions, but unfortunately these are only a few of the possibilities.

Worst case senario, this baby passes away prior to delivery Best case senario, this baby is born alive and well with no medical complications or genetic conditions....please know this is a very real possibility.

Please know there is no one to blame here, no one has control of these situations and the fact that you had this child after the age of 35 is not a reason to feel guilty. Your chances at the age of 30-34 are less than 1% to have a child with a chromosome problem. Your chances at 35 are still less than 1%. In fact even at the age of 49/50, the chance is still 10% or less to have a child with a chromosome problem. Statistically, odds are in your favor to continue to have health pregnancies for many years. If we find out this baby does in fact have a chromosome problem, I will still say your chances are only 1% for future pregnancies to have a chromosome problem. If we find out this baby has something else, the odds are still in your favor to have a health pregnancy.

Thanks for that update, sounds like you have a great doctor, although they are statistical they are also more optomistic than mine. Thanks for that it made my morning.

Jenn,

Good Luck tomorrow as our prayers are with you.

Macey,

My IL friend I am saying a billion prayers for you guys just please don't give up on your little one yet. Let's see what the tests say. Trust me your husband probably just has a hard time showing his emotions because he does not want to upset you further. I had mine talk to my mom as well, she just kept asking me why this was happening when I talked to her so I could not handle it anymore. I love her to death but its so not easy. I talk to her on IM just for right now. Please let us know how it goes tomorrow. Hopefully all this will pass and maybe we can make a play date for our kids cause we live so close!

Tammy: Thanks for posting your information - It is helpful to hear all of the other perspectives out there. I will keep you in my thoughts as you await your next test.

Jenn: Your results should be coming in soon - right? I hope all goes well and you receive the news you have been waiting for.

Ladies,

Tomorrow I go for my CVS - 8:45am. I also get my blood results back tomorrow indicating if there is any infection/virus, etc. I have decided to take the next week off of work while my husband and I sort through all of this and await for the preliminary CVS results. The weekend has been so hard to get through - I just need to get through today......

Joy: Thank you for your prayers - I will definitely update you on my appt tomorrow. It's interesting, because I am such a nervous wreck when it comes to any pain or any procedure. But how things change when you have something much larger at stake. Instead, I find myself anxiously awaiting to get it done and find out my answers. I guess we will be finding out the sex of our baby soon too - from what I understand, the CVS results will tell us that. I'm sure that will make things feel so much more real as well.

So, the goal for the day is to get through the day without breaking down. Get through one more sleepless night and then get us on the road to finding the answers we need to move on. I haven't given up hope yet - My little one was perfect just 9 days ago at my last NT scan.....and still has all the right measurements and a strong heart beat. Let's hope that is still the case tomorrow and there is some light at the end of this tunnel!

The CVS was not bad. However, they were able to take my sample transvaginal. Depends on where the placenta is located. They may have to take it like an amnio through your belly, I heard that makes it a little more tender. For me there was no spotting or anything. It took them longer to set up then the actual procedure so please don't worry about that. Plus when they do the US they will measure the CH, please make sure you find out how big so your not left guessing. I understand your reasoning to take off work, I just have to keep myself busy or it drives me nuts. Don't know if your religious, we are Catholic but not so much practicing. But there is a prayer to St. Gerard that is for unborn babies. I just found that this morning. I wish you well and trust me the two days will fly by and hopefully you will be reassured with the results. Trust me we had our CVS Mon the 29th got the results on 12/31 and the talked me into scheduling the termination for Friday, thank goodness I cancelled. And you don't have to find out the sex we just chose to. Good luck.

Joy: Thanks for the note - I'm glad to hear that the procedure itself is not that bad. I'm going to finish my list of questions for tomorrow so I'm prepared and I know that I haven't forgotten anything after I leave.

Yes, I was debating going back to work on Tuesday while I wait the results - who knows, perhaps I will. I work with a great team - mostly women, and women interestingly enough who have been through just as much, if not more hard times when it has come to having children. It's amazing how many people experience some sort of difficult time either conceiving or carrying or having a healthy pregnancy. I know I have a great support system once I go back, so maybe that will be the best place for me while I wait. Time will tell.....

Thanks for the note on the prayer - Yes, we are Catholic as well. Just married about a year and a half ago at St. Alphonsus in Chicago.